NCIt synonyms : Nuclear Factor of Kappa Light Polypeptide Gene Enhancer in B-Cells Inhibitor-Like
2 Gene; IKBR; I-Kappa-B-Related Gene; NFKBIL2; Nuclear Factor of Kappa Light Chain Gene Enhancer in B Cells Inhibitor-Like 2 Gene; SEMDSP; Tonsoku Like, DNA Repair Protein wt Allele;
NCIt definition : Human TONSL wild-type allele is located in the vicinity of 8q24.3 and is approximately
16 kb in length. This allele, which encodes tonsoku-like protein, plays a role in
the recruitment of DNA repair enzymes to double-strand breaks (DSBs) at stalled or
collapsed replication forks. Mutation of the gene is associated with sponastrime type
spondyloepimetaphyseal dysplasia.;
OMIM relation